Chondrodystrophic myotonia (Schwartz-Jampel syndrome) in South African children.
Three children with the clinical features of the Schwartz-Jampel syndrome are presented, two with classical features and the third with physical and radiological features resembling those found in the Schwartz-Jampel syndrome but myotonia could not be elicited either clinically or electrophysiologically. Various arguments are put forward for the absence of myotonic phenomena in the latter child.
Moodley
M
M
Department of Paediatrics and Child Health, Faculty of Medicine, University of Natal, Congella, Republic of South Africa.
Moosa
A
A
D044383:Black People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009460:Neurologic Examination; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics; D013019:South Africa